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The Rett syndrome: genetics and the future.

作者信息

Riccardi V M

出版信息

Am J Med Genet Suppl. 1986;1:389-402. doi: 10.1002/ajmg.1320250541.

Abstract

Genetic and nongenetic explanations of female-limited disease, such as the Rett syndrome, are reviewed, with emphasis on the possibility of a disturbance of late-replicating X-chromosome heterochromatinization. A possible disturbance of X-chromosome late-replication, as demonstrated by BUdR terminal pulse-labelling is described for a specific Rett syndrome patient.

摘要

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